Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 9 | 133257521 | frameshift variant | -/C | ins | 0.37 | 0.35 |
|
0.830 | 1.000 | 1 | 2012 | 2019 | |||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.810 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.120 | 9 | 133266790 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
9 | 133268030 | intron variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2013 | 2017 | |||||||||||
|
9 | 133266942 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||||
|
9 | 133266942 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
9 | 133266804 | intron variant | G/T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv |
|
0.800 | 1.000 | 1 | 2013 | 2019 | |||||||||
|
1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2019 | |||||||||
|
0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2013 | |||||||||
|
0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2013 | |||||||||
|
0.925 | 0.120 | 9 | 133257521 | frameshift variant | -/C | ins | 0.37 | 0.35 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 9 | 133257367 | intron variant | C/A | snv | 0.13 | 0.12 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 9 | 133256028 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.160 | 9 | 133255935 | missense variant | G/A;T | snv | 4.1E-06; 0.12 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
1.000 | 0.040 | 9 | 133255801 | synonymous variant | C/T | snv | 0.12 | 0.11 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.720 | 1.000 | 1 | 2013 | 2018 | |||||||||
|
0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv |
|
0.720 | 0.667 | 1 | 2016 | 2018 | |||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2018 | 2019 | |||||||||
|
9 | 133253728 | non coding transcript exon variant | A/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
9 | 133252613 | non coding transcript exon variant | G/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 133252613 | non coding transcript exon variant | G/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |